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WO2006100608A3 - Gene humain de susceptibilite a l'autisme codant une proteine transmembrane et ses utilisations - Google Patents

Gene humain de susceptibilite a l'autisme codant une proteine transmembrane et ses utilisations Download PDF

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Publication number
WO2006100608A3
WO2006100608A3 PCT/IB2006/001219 IB2006001219W WO2006100608A3 WO 2006100608 A3 WO2006100608 A3 WO 2006100608A3 IB 2006001219 W IB2006001219 W IB 2006001219W WO 2006100608 A3 WO2006100608 A3 WO 2006100608A3
Authority
WO
WIPO (PCT)
Prior art keywords
disorder
autism
gene
diagnosis
prevention
Prior art date
Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
Ceased
Application number
PCT/IB2006/001219
Other languages
English (en)
Other versions
WO2006100608A2 (fr
Inventor
Anne Philippi
Francis Rousseau
Elke Roschmann
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
IntegraGen SA
Original Assignee
IntegraGen SA
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Priority to AU2006225995A priority Critical patent/AU2006225995B2/en
Application filed by IntegraGen SA filed Critical IntegraGen SA
Priority to JP2008502516A priority patent/JP2008537486A/ja
Priority to US11/909,584 priority patent/US20090215040A1/en
Priority to DE602006017045T priority patent/DE602006017045D1/de
Priority to AT06744682T priority patent/ATE482290T1/de
Priority to EP06744682A priority patent/EP1863937B1/fr
Priority to DK06744682.3T priority patent/DK1863937T3/da
Priority to CA002601311A priority patent/CA2601311A1/fr
Publication of WO2006100608A2 publication Critical patent/WO2006100608A2/fr
Publication of WO2006100608A3 publication Critical patent/WO2006100608A3/fr
Priority to IL185868A priority patent/IL185868A0/en
Anticipated expiration legal-status Critical
Ceased legal-status Critical Current

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Classifications

    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/172—Haplotypes

Landscapes

  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Organic Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Zoology (AREA)
  • Analytical Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • Engineering & Computer Science (AREA)
  • Microbiology (AREA)
  • Biochemistry (AREA)
  • Biotechnology (AREA)
  • Molecular Biology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Pathology (AREA)
  • Immunology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Peptides Or Proteins (AREA)

Abstract

L'invention concerne l'identification d'un gène humain de susceptibilité à l'autisme, pouvant être utilisé pour le diagnostic, la prévention et le traitement de l'autisme et des troubles associés, ainsi que pour sélectionner des médicaments thérapeutiquement actifs. Plus spécifiquement, l'invention spécifie que le gène ATP2B2 sur le chromosome 3 et certains de ses allèles sont associés à la susceptibilité à l'autisme et représentent des cibles nouvelles pour des interventions thérapeutiques. L'invention concerne en particulier des mutations dans le gène ATP2B2 et ses produits d'expression, ainsi que des instruments et des kits de diagnostic basés sur ces mutations. L'invention peut être utilisée pour diagnostiquer la prédisposition, la détection, la prévention et/ou le traitement du syndrome d'Asperger, des troubles envahissants du développement, des troubles désintégratifs de l'enfance, ainsi que des troubles et maladies ci-après : arriération mentale, anxiété, dépression, troubles d'hyperactivité et de déficience de l'attention, retard de langage ou déficiences spécifiques du langage, épilepsie, troubles métaboliques, troubles immunitaires, maladies affectives bipolaires, et autres maladies psychiatriques et neurologiques, y compris la schizophrénie.
PCT/IB2006/001219 2005-03-24 2006-03-23 Gene humain de susceptibilite a l'autisme codant une proteine transmembrane et ses utilisations Ceased WO2006100608A2 (fr)

Priority Applications (9)

Application Number Priority Date Filing Date Title
CA002601311A CA2601311A1 (fr) 2005-03-24 2006-03-23 Gene humain de susceptibilite a l'autisme codant une proteine transmembrane et ses utilisations
JP2008502516A JP2008537486A (ja) 2005-03-24 2006-03-23 膜貫通タンパク質をコード化するヒトの自閉症感受性遺伝子およびその使用
US11/909,584 US20090215040A1 (en) 2005-03-24 2006-03-23 Human autism susceptibility gene encoding a transmembrane protein and uses thereof
DE602006017045T DE602006017045D1 (de) 2005-03-24 2006-03-23 Ein transmembranprotein kodierendes humanes autismus-suszeptibilitätsgen und dessen verwendung
AT06744682T ATE482290T1 (de) 2005-03-24 2006-03-23 Ein transmembranprotein kodierendes humanes autismus-suszeptibilitätsgen und dessen verwendung
AU2006225995A AU2006225995B2 (en) 2005-03-24 2006-03-23 Human autism susceptibility gene encoding a transmembrane protein and uses thereof
DK06744682.3T DK1863937T3 (da) 2005-03-24 2006-03-23 Humant autisme-susceptibilitetsgen kodende for et transmembranprotein og anvendelser deraf
EP06744682A EP1863937B1 (fr) 2005-03-24 2006-03-23 Gene humain de susceptibilite a l'autisme codant une proteine transmembrane et ses utilisations
IL185868A IL185868A0 (en) 2005-03-24 2007-09-10 Human autism susceptibility gene encoding a transmembrane protein and uses thereof

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US66469705P 2005-03-24 2005-03-24
US60/664,697 2005-03-24

Publications (2)

Publication Number Publication Date
WO2006100608A2 WO2006100608A2 (fr) 2006-09-28
WO2006100608A3 true WO2006100608A3 (fr) 2007-04-05

Family

ID=37024209

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/IB2006/001219 Ceased WO2006100608A2 (fr) 2005-03-24 2006-03-23 Gene humain de susceptibilite a l'autisme codant une proteine transmembrane et ses utilisations

Country Status (11)

Country Link
US (1) US20090215040A1 (fr)
EP (1) EP1863937B1 (fr)
JP (1) JP2008537486A (fr)
AT (1) ATE482290T1 (fr)
AU (1) AU2006225995B2 (fr)
CA (1) CA2601311A1 (fr)
DE (1) DE602006017045D1 (fr)
DK (1) DK1863937T3 (fr)
ES (1) ES2350851T3 (fr)
IL (1) IL185868A0 (fr)
WO (1) WO2006100608A2 (fr)

Families Citing this family (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP2297351A1 (fr) * 2008-06-12 2011-03-23 Integragen Combinaison d'allèles à risque associés à l'autisme
CA2726080A1 (fr) * 2008-06-12 2009-12-17 Integragen Procede de prevision de l'autisme
WO2011067296A1 (fr) 2009-12-01 2011-06-09 Integragen Combinaison de huit allèles à risque associés à l'autisme
US20130137585A1 (en) 2010-05-04 2013-05-30 Jerome Carayol New combination of eight risk alleles associated with autism

Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2000053802A1 (fr) * 1999-03-12 2000-09-14 Integragen, S.A.S. Compositions et methode d'analyse genetique
US20030096264A1 (en) * 2001-06-18 2003-05-22 Psychiatric Genomics, Inc. Multi-parameter high throughput screening assays (MPHTS)
WO2004033717A1 (fr) * 2002-10-10 2004-04-22 K.U. Leuven Research And Development Gene de l'autisme

Family Cites Families (8)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US4861719A (en) 1986-04-25 1989-08-29 Fred Hutchinson Cancer Research Center DNA constructs for retrovirus packaging cell lines
US5278056A (en) 1988-02-05 1994-01-11 The Trustees Of Columbia University In The City Of New York Retroviral packaging cell lines and process of using same
US5670488A (en) 1992-12-03 1997-09-23 Genzyme Corporation Adenovirus vector for gene therapy
ATE341638T1 (de) 1993-02-22 2006-10-15 Univ Rockefeller Herstellung von helfer-freien retroviren mit hohem titer mittels transienter transfektion
FR2712812B1 (fr) 1993-11-23 1996-02-09 Centre Nat Rech Scient Composition pour la production de produits thérapeutiques in vivo.
IL116816A (en) 1995-01-20 2003-05-29 Rhone Poulenc Rorer Sa Cell for the production of a defective recombinant adenovirus or an adeno-associated virus and the various uses thereof
US6013516A (en) 1995-10-06 2000-01-11 The Salk Institute For Biological Studies Vector and method of use for nucleic acid delivery to non-dividing cells
ATE424469T1 (de) * 2004-07-01 2009-03-15 Integragen Sa Für prkcb1 kodierendes humanes autismus- suszeptibilitätsgen und dessen verwendung

Patent Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2000053802A1 (fr) * 1999-03-12 2000-09-14 Integragen, S.A.S. Compositions et methode d'analyse genetique
US20030096264A1 (en) * 2001-06-18 2003-05-22 Psychiatric Genomics, Inc. Multi-parameter high throughput screening assays (MPHTS)
WO2004033717A1 (fr) * 2002-10-10 2004-04-22 K.U. Leuven Research And Development Gene de l'autisme

Non-Patent Citations (6)

* Cited by examiner, † Cited by third party
Title
BROOKS P ET AL: "GENOME WIDE MAPPING OF AUTISM SUSCEPTIBILITY LOCI BY ENZYMATIC SELECTION OF IDENTITY-BY-DESCENT REGIONS IN AUTISTIC SIBLING PAIRS", AMERICAN JOURNAL OF MEDICAL GENETICS, WILEY, NEW YORK,NY, US, vol. 130B, no. 1, September 2004 (2004-09-01), pages 29, XP009058507, ISSN: 0148-7299 *
HUSSMAN JOHN P: "Suppressed GABAergic inhibition as a common factor in suspected etiologies of autism", JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS, vol. 31, no. 2, April 2001 (2001-04-01), pages 247 - 248, XP002388698, ISSN: 0162-3257 *
LAURITSEN M B ET AL: "The genetics of autism", ACTA PSYCHIATRICA SCANDINAVICA, MUNKSGAARD, COPENHAGEN, DE, vol. 103, no. 6, June 2001 (2001-06-01), pages 411 - 427, XP002358261, ISSN: 0001-690X *
MUHLE REBECCA ET AL: "The genetics of autism.", PEDIATRICS. MAY 2004, vol. 113, no. 5, May 2004 (2004-05-01), pages e472 - e486, XP002388697, ISSN: 1098-4275 *
SHASTRY B S: "Molecular genetics of autism spectrum disorders", JOURNAL OF HUMAN GENETICS, vol. 48, no. 10, 2003, pages 495 - 501, XP002315920 *
SPENCE SARAH J: "The genetics of autism.", SEMINARS IN PEDIATRIC NEUROLOGY. SEP 2004, vol. 11, no. 3, September 2004 (2004-09-01), pages 196 - 204, XP004666241, ISSN: 1071-9091 *

Also Published As

Publication number Publication date
ES2350851T3 (es) 2011-01-27
AU2006225995B2 (en) 2011-03-17
WO2006100608A2 (fr) 2006-09-28
DK1863937T3 (da) 2010-12-13
AU2006225995A1 (en) 2006-09-28
JP2008537486A (ja) 2008-09-18
DE602006017045D1 (de) 2010-11-04
EP1863937A2 (fr) 2007-12-12
US20090215040A1 (en) 2009-08-27
IL185868A0 (en) 2008-01-06
CA2601311A1 (fr) 2006-09-28
EP1863937B1 (fr) 2010-09-22
ATE482290T1 (de) 2010-10-15

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